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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

JUP Gene

protein-coding GIFtS: 66
GCID: GC17M039776

junction plakoglobin

(Previous names: catenin (cadherin-associated protein), gamma 80kDa )
(Previous symbol: CTNNG)

Explore 94 diseases affiliated with
JUP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Junction Plakoglobin¹ ²		Catenin (Cadherin-Associated Protein), Gamma 80kDa¹ ²
DP3¹ ² ³ ⁵		Desmoplakin III² ³
CTNNG¹ ² ³		ARVD12² ⁵
PDGB¹ ² ⁵		Desmoplakin-3³
DPIII¹ ²		Desmoplakin-3³
PKGB¹ ²		Catenin Gamma³

External Ids:	HGNC: 6207¹	Entrez Gene: 3728²	Ensembl: ENSG00000173801⁷	OMIM: 173325⁵	UniProtKB: P14923³

Export aliases for JUP gene to outside databases

Previous GC identifers: GC17M039465 GC17M041960 GC17M039820 GC17M040284 GC17M037164 GC17M039910 GC17M035672

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JUP:

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of

both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal

cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the

armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this

gene; however, not all transcripts have been fully described. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923

Function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important

strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue.

The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central

role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to

stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes

which are proposed to couple cadherins to the actin cytoskeleton (By similarity)

Gene Wiki entry for JUP (Plakoglobin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the JUP gene promoter:
AREB6 E2F-1 E2F p53 HOXA5 E2F-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: JUP promoter sequence

Search SABiosciences Chromatin IP Primers for JUP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JUP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q21

JUP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JUP gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M039776: view genomic region (about GC identifiers)

Start:	39,775,692 bp from pter	End:	39,943,183 bp from pter
Size:	167,492 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 (See protein sequence)

Recommended Name: Junction plakoglobin

Size: 745 amino acids; 81745 Da

Subunit: Homodimer. Component of an E-cadherin/ catenin adhesion complex composed of at least E-cadherin/CDH1 and

gamma-catenin/JUP, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable

association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex.

Interacts with MUC1. Interacts with CAV1 (By similarity). Interacts with PTPRJ. Interacts with DSG1. Interacts with

DSC1 and DSC2

Subcellular location: Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm, cytoskeleton. Membrane;

Peripheral membrane protein. Note=Cytoplasmic in a soluble and membrane-associated form

Sequence caution: Sequence=AAH00441.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for JUP:

3IFQ (3D)

Secondary accessions: Q15093 Q15151 Q7L3S5 Q86W21 Q9BWC4 Q9HCX9

Explore the universe of human proteins at neXtProt for JUP: NX_P14923

Post-translational modifications:

May be phosphorylated by FER¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P14923

JUP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_002221.1 NP_068831.1

ENSEMBL proteins:

ENSP00000377507 ENSP00000311113 ENSP00000377508 ENSP00000389886 ENSP00000394146

ENSP00000411449 ENSP00000401034 ENSP00000468347 ENSP00000409948 ENSP00000467065

ENSP00000441751

Reactome Protein details: P14923
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: JUP OriGene Protein Over-expression Lysate (see all 3): JUP OriGene Custom Protein Services for JUP
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	Novus Biologicals JUP Protein Novus Biologicals JUP Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for JUP

Gene Ontology (GO): 5/25 cellular component terms (GO ID links to tree view) (see all 25): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IMP	14661054
GO:0005667	NOT transcription factor complex	IKR	--
GO:0005737	cytoplasm	IMP	14661054
GO:0005829	cytosol	ISS	--
GO:0005856	cytoskeleton	ISS	--

JUP for ontologies About GeneDecksing

JUP Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of JUP
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	Cell Signaling Technology (CST) Antibodies for JUP (desmoplakin 3)
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	GenScript Custom Superior Antibodies Services for JUP
	Novus Biologicals JUP Antibodies
	Search for Antibodies for JUP at Abcam
	Uscn Antibodies for JUP
	ThermoFisher Antibody for JUP

Assay Products for JUP:

	EMD Millipore Kits and Assays for the Analysis of JUP
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for JUP
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for JUP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

JUP for domains About GeneDecksing

4 InterPro domains/families:

IPR011989 ARM-like

IPR000225 Armadillo

IPR013284 Beta-catenin

IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry P14923

ProtoNet protein and cluster: P14923

2 Blocks protein families:

IPB000225 Armadillo repeat

IPB000357 HEAT repeat

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923

Domain: the whole ARM repeats region mediate binding to CDH1/E-cadherin

Similarity: Belongs to the beta-catenin family

Similarity: Contains 12 ARM repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923

Function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important

strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue.

The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central

role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to

stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes

which are proposed to couple cadherins to the actin cytoskeleton (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): JUP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JUP
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate JUP (see all 15):
		hsa-miR-601 hsa-miR-548d-3p hsa-miR-300 hsa-miR-1914* hsa-miR-381 hsa-miR-133b hsa-miR-548aa hsa-miR-3157-5p

		SwitchGear 3'UTR luciferase reporter plasmid: JUP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JUP (see all 7) OriGene shRNA RFP: JUP OriGene siRNA: JUP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JUP

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for JUP

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JUP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JUP (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): JUP (NM_021991)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for JUP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JUP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for JUP
		Search LifeMap BioReagents cell lines for JUP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JUP

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003713	transcription coactivator activity	IDA	14661054
GO:0005198	structural molecule activity	NAS	--
GO:0005199	structural constituent of cell wall	IC	7650039
GO:0005515	protein binding	IPI	16917092
GO:0019901	protein kinase binding	IBA	--

JUP for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for JUP:

Decreased cell spreading

Animal Models:
Mouse knock-outs for JUP: Jup^tm1.2Glr Jup^tm1Kem Jup^tm1Ruiz
12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Jup):

cardiovascular system	cellular	embryogenesis	growth/size	homeostasis/metabolism
immune system	integument	liver/biliary system	mortality/aging	muscle
nervous system	respiratory system

JUP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell-cell junction organization

	Cell-cell junction organization	1.00			Adherens junctions interactions	0.51
	Cell junction organization	0.69			Cell-Cell communication	0.45

Cell adhesion Endothelial cell contacts by junctional mechanisms

Cell adhesion Endothelial cell contacts by junctional mechanisms

1.00

Cell adhesion_Endothelial cell contacts by junctional mechanisms

0.97

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Germ Cell-Sertoli Cell Junction Dynamics

0.38

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1.00

Arrhythmogenic right ventricular cardiomyopathy

0.99

Cytoskeleton remodeling Slit-Robo signaling

Cell adhesion Cadherin-mediated cell adhesion

0.28

Cell adhesion_Cadherin-mediated cell adhesion

0.28

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for JUP

	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Cell adhesion Cadherin-mediated cell adhesion
	Cell adhesion Endothelial cell contacts by non-junctional mechanisms

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JUP

	Sertoli-Sertoli Cell Junction Dynamics
	Internalin Pathway
	Germ Cell-Sertoli Cell Junction Dynamics
	Epithelial Adherens Junctions

1 Cell Signaling Technology (CST) Pathway for JUP

Adhesion

3 GeneGo (Thomson Reuters) Pathways for JUP

	Cell adhesion Endothelial cell contacts by non-junctional mechanisms
	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Cell adhesion Cadherin-mediated cell adhesion

4 BioSystems Pathways for JUP

	Wnt Signaling Pathway NetPath
	Arrhythmogenic right ventricular cardiomyopathy
	Arf6 trafficking events
	E-cadherin signaling in the nascent adherens junction

4 Reactome Pathways for JUP

	Adherens junctions interactions
	Cell junction organization
	Cell-Cell communication
	Cell-cell junction organization

1 PharmGKB Pathway for JUP

Antiarrhythmic Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for JUP):

	Pathways in cancer
	Acute myeloid leukemia
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)

JUP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for JUP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/157 Interacting proteins for JUP (P14923^{1, 2, 3} ENSP00000311113⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 157)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NFKBIE	O00221²^,³, ENSP00000275015⁴	MINT-67718 I2D: score=4 STRING: ENSP00000275015
PSEN1	P49768¹^,³, ENSP00000326366⁴	EBI-744449,EBI-297277 I2D: score=3 STRING: ENSP00000326366
PECAM1	P16284¹^,³	EBI-744449,EBI-716404 I2D: score=3
ZFYVE9	O95405²^,³	MINT-62056 I2D: score=3
WDYHV1	Q96HA8¹^,²^,³, ENSP00000287387⁴	EBI-744449,EBI-741158 MINT-66801 I2D: score=5 STRING: ENSP00000287387

About this table

Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	NOT negative regulation of transcription from RNA polymerase II promoter	IKR	--
GO:0000902	cell morphogenesis	IBA	--
GO:0002159	desmosome assembly	IDA	--
GO:0003136	negative regulation of heart induction by canonical Wnt receptor signaling pathway	IBA	--
GO:0003181	atrioventricular valve morphogenesis	IBA	--

JUP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

JUP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for JUP
10/20 Novoseek chemical compound relationships for JUP gene (see all 20) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5-aza-2'deoxycytidine	51.5	10	16887905 (2), 14562048 (1), 16537559 (1), 18974268 (1) (see all 5)
alpha e	50.5	1	12454392 (1)
tyrosine	48.5	70	11710913 (6), 11371122 (5), 14517306 (4), 11777936 (3) (see all 31)
phosphotyrosine	33.9	2	9378757 (1)
ryanodine	11.3	3	11716909 (1), 19205777 (1)
phalloidin	8.32	1	10075198 (1)
estrogen	5.22	1	17575143 (1)
vegf	4.69	6	16149139 (2), 19015309 (1), 9625748 (1), 15306099 (1) (see all 5)
p002	3.7	2	15916880 (1), 16445817 (1)
oligonucleotide	0	4	9476558 (2)

Search CenterWatch for drugs/clinical trials and news about JUP / PLAK

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for JUP gene (2 alternative transcripts):

NM_002230.2 NM_021991.2

Unigene Cluster for JUP:

Junction plakoglobin

Hs.514174 [show with all ESTs]

Unigene Representative Sequence: BX648177

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000393930(uc002hxq.2) ENST00000310706(uc010wfs.2 uc002hxr.2)

ENST00000393931(uc002hxs.2) ENST00000585793 ENST00000449889 ENST00000437187

ENST00000420370 ENST00000424457 ENST00000591690 ENST00000437369 ENST00000589036

ENST00000465293 ENST00000540235

miRNA Products:		OriGene 3'-UTR Clone (see all 2): JUP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JUP
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate JUP (see all 15):
		hsa-miR-601 hsa-miR-548d-3p hsa-miR-300 hsa-miR-1914* hsa-miR-381 hsa-miR-133b hsa-miR-548aa hsa-miR-3157-5p

		SwitchGear 3'UTR luciferase reporter plasmid: JUP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JUP (see all 7) OriGene shRNA RFP: JUP OriGene siRNA: JUP
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JUP

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JUP Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat JUP
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JUP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JUP

Additional cDNA sequence:

AK226051.1 AY243535.1 BC000441.2 BX648177.1 M23410.1 Z68228.1

20 DOTS entries:

DT.316762 DT.95310616 DT.92451789 DT.95353325 DT.95148127 DT.95222134 DT.100797771 DT.97862399

DT.100797760 DT.100038510 DT.100797766 DT.92451794 DT.95142885 DT.95329446 DT.99945191 DT.100797763

DT.120971183 DT.40133252 DT.87014380 DT.92451791

24/610 AceView cDNA sequences (see all 610):

BQ686960 BM713364 BM840442 AI763184 BX090907 BM757209 BM742941 CA489074

CA488954 BQ686865 BM768637 BQ268292 BE719450 BM768564 BM668200 AW874432

BU859110 BU526474 BM923809 BQ889415 BM847323 BQ691016 AA932199 BF590557

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for JUP (see all 13) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	·	8d	^	9a	·	9b	·	9c	^	10	^	11	^	12a	·	12b	^	13	^
SP1:											-		-		-		-		-		-		-				-
SP2:			-		-		-		-		-		-		-		-		-		-		-				-
SP3:
SP4:											-		-		-		-		-		-		-				-								-		-		-		-		-
SP5:																											-

ExUns:	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21
SP1:							-
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for JUP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

JUP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTGGGGGG

About this image

JUP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Eye

Gut Tube

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

See JUP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JUP

SOURCE GeneReport for Unigene cluster: Hs.514174

SABiosciences Expression via Pathway-Focused PCR Arrays including JUP:

Adherens Junctions in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JUP Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JUP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JUP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for JUP gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	JUP¹	junction plakoglobin	85.16(n) 90.28(a)		429710 XM_003642829.1 XP_003642877.1
lizard (Anolis carolinensis)	Reptilia	JUP⁶	--	87(a)	1 ↔ 1	6(71200705-71214877)
African clawed frog (Xenopus laevis)	Amphibia	Xl.2844²	Xenopus laevis plakoglobin mRNA, complete cds	77(n)		M95593.1
zebrafish (Danio rerio)	Actinopterygii	LOC100330886¹	junction plakoglobin-like	71.67(n) 74.57(a)		100330886 XM_002665476.2 XP_002665522.2
fruit fly (Drosophila melanogaster)	Insecta	arm³	frizzled receptor signaling pathway cytoskeletal more	65(a)		1 2B14 --
worm (Caenorhabditis elegans)	Secernentea	hmp-2³	Armadillo/beta-catenin-like repeats (4 domains)	34(a) (best of 2)		I(14747632-14750563) --

ENSEMBL Gene Tree for JUP (if available)
TreeFam Gene Tree for JUP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for JUP gene

CTNNB1² ARMC3² ARMC4²

18/43 SIMAP similar genes for JUP using alignment to 9 protein entries: PLAK_HUMAN (see all proteins) (see all similar genes):

GUCA1B keratin KRT16 KRT15 KRT13 KRT10

type I hair keratin K14 KRT17 KRT14 KRT33A KRT19

KRT20 KRT9 KRT12 KRT34 KRT37 KRTHA7

JUP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2230407^1,2	C,F,H,	non-pathogenic	38641677(-)	`ACCACC/G/TGACTG`	6	T	syn¹		13	NA NS CSA WA EU	7084
rs1126821^1,2	C,F,H,	non-pathogenic	39912145(-)	`CAGACT/ATGGAT`	8	/M /L	mis¹		19	NS EA NA WA CSA EU	6471
rs193922705^1,2	C,F	unknown	38641725(-)	`GTGGGC/TCCTCC`	2	--	int¹		1	EU	1011
rs116772523^1,2	C,F,	unknown	38651288(+)	`GAGGGG/AACGTG`	2	--	int¹		1	WA	118
rs55919561^1,2		--	35673253(+)	`GGGGTG/AGGCAA`	2	--	ut3¹		1	NA	120
rs56339743^1,2	C,	--	35673397(+)	`TCGAAC/GCTGGG`	2	--	ut3¹		2	WA	120
rs8074883^1,2	C,F,A,H,	--	35673437(+)	`TGGTCG/AGTGGA`	2	--	ut3¹ ese³		14	NS EA NA WA	1524
rs55634776^1,2	C,	--	35673483(+)	`AAGCCC/TTTCCG`	2	--	ut3¹		2	NA	122
rs112919070^1,2	C	--	35673700(+)	`AGGGTA/C/GCAGCA`	4	--	ut3¹		1	CSA	1
rs73983656^1,2	C,	--	35673820(+)	`GACAGG/AGGTCA`	2	--	ut3¹ int¹		2	WA	120

HapMap Linkage Disequilibrium report for JUP (39775692 - 39943183 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for JUP: --
Human Gene Mutation Database (HGMD): JUP

Locus Specific Mutation Databases (LSDB): JUP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JUP

DNA2.0 Custom Variant and Variant Library Synthesis for JUP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

JUP for disorders           About GeneDecksing

OMIM gene information: 173325
OMIM disorders: 601214  611528
UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923

Defects in JUP are the cause of Naxos disease (NXD) [MIM:601214]. NXD is an autosomal recessive disorder

combining diffuse non-epidermolytic palmoplantar keratoderma with arrhythmogenic right ventricular

dysplasia/cardiomyopathy and woolly hair

Defects in JUP are the cause of familial arrhythmogenic right ventricular dysplasia type 12 (ARVD12)

[MIM:611528]; also called arrhythmogenic right ventricular cardiomyopathy 12 (ARVC12). ARVD is an autosomal dominant

disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and

sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings,

replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular

free wall

20/94 diseases for JUP (see all 94): About MalaCards

arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia, familial, 12 naxos disease hailey-hailey disease

epidermolytic palmoplantar keratoderma familial adenomatous polyposis pemphigus vulgaris adenomatous polyposis coli

sarcomatoid renal cell carcinoma palmoplantar keratosis squamous cell carcinoma soft tissue sarcoma

keratoderma inflammatory bowel disease pemphigus carcinoma

malignant mesothelioma colonic polyps autosomal dominant disease pituitary adenoma

3 diseases from the University of Copenhagen DISEASES database for JUP:

Keratosis Arrhythmogenic right ventricular dysplasia Hailey-Hailey disease

10/95 Novoseek disease relationships for JUP gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
naxos disease	89.6	15	15851108 (3), 10902626 (2), 11691526 (2), 16096717 (1) (see all 11)
carvajal syndrome	82.8	1	19558499 (1)
arrhythmogenic right ventricular dysplasia	81.9	15	16893920 (2), 10902626 (1), 20130592 (1), 17413274 (1) (see all 12)
acantholysis	77.2	5	11553312 (2), 11125324 (1), 12358812 (1), 11334462 (1)
pemphigus vulgaris	75.3	12	9521500 (3), 12358812 (3), 11125324 (1), 7738346 (1) (see all 8)
keratoderma palmoplantar	72.7	8	10902626 (2), 17045679 (2), 18957847 (1), 16414451 (1) (see all 6)
hailey-hailey disease	62.2	4	9521500 (3), 1419753 (1)
pemphigus	62	4	10427986 (1), 1419753 (1), 11251577 (1)
familial adenomatous polyposis	60.3	7	10408833 (1), 10207085 (1), 11407474 (1), 10996845 (1) (see all 7)
darier disease	58.9	5	9521500 (3), 7537767 (1), 1419753 (1)

GeneTests: JUP

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

Human Genome Epidemiology (HuGE) Navigator: JUP (4 documents)

Export disorders for JUP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for JUP gene, integrated from 9 sources (see all 632):
(articles sorted by number of sources associating them with JUP)

Utopia: connect your pdf to the dynamic
world of online information

Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription. (PubMed id 14517306)^{1, 2, 9} Miravet S....Garcia de Herreros A. (2003)
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PubMed id 17924338)^{1, 2, 9} Asimaki A....McKenna W.J. (2007)
Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PubMed id 1889810)^{1, 3, 9} Arnemann J....Buxton R.S. (1991)
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (PubMed id 10902626)^{1, 2, 9} McKoy G....McKenna W.J. (2000)
The human plakoglobin gene localizes on chromosome 17 q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. (PubMed id 7604000)^{1, 3, 9} Aberle H....Lynch H.T. (1995)
Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)^{1, 2, 9} den Haan A.D....Judge D.P. (2009)
Genomic organization and amplification of the human plakoglobin gene (JUP). (PubMed id 11016852)^{1, 2, 9} Whittock N.V.... McGrath J.A. (2000)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
The transmembrane receptor protein tyrosine phosphatase DEP1 interacts with p120(ctn). (PubMed id 12370829)^{1, 2} Holsinger L.J....Jallal B. (2002)
Interaction of the DF3/MUC1 breast carcinoma-associated antigen and beta-catenin in cell adhesion. (PubMed id 9139698)^{1, 2} Yamamoto M.... Kufe D. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3728	HGNC: 6207	AceView: JUP	Ensembl:ENSG00000173801	euGenes: HUgn3728
ECgene: JUP	Kegg: 3728	H-InvDB: JUP

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for JUP	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for JUP	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JUP

Intellectual Property for JUP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for JUP gene:
Search GeneIP for patents involving JUP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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familial adenomatous polyposis
Acantholysis
Microsatellite Instability
Carcinoma Basal Cell
dysplasia
Colitis Ulcerative
Polyps
Keratoses
COLON CARCINOMA
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
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JUP Gene

junction plakoglobin

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